IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, LARGE
Definition : Molecular assay reagents intended to identify mutations in the like-glycosyltransferase (LARGE) gene, located at chromosome 22q12.3-q13.1, which encodes for a protein that is a key determinant in the biosynthetic pathway to produce mature and functional dystroglycan. mutations at this locus have been identified in patients with congenital muscular dystrophy type 1D.
Entry Terms : "Muscular Dystrophy, Type 1D Congenital Muscular Dystrophy Type 1D (MDC1D) Gene Mutation Reagents" , "LARGE Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, LARGE"
UMDC code : 24592